Canonical Allele Identifier: CA351413092

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707193C>G (hg19) ; chr2:g.241767778C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767778C>G , CM000664.2:g.241767778C>G	GRCh38
NC_000002.11:g.242707193C>G , CM000664.1:g.242707193C>G	GRCh37
NC_000002.10:g.242355866C>G	NCBI36
NG_012012.1:g.38164C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1375C>G MANE Select	ENSP00000315351.4:p.Pro459Ala
ENST00000321264.8:c.1375C>G	ENSP00000315351.4:p.Pro459Ala
ENST00000400769.6:c.*125C>G	ENSP00000383580.2:n.*125C>G
ENST00000403782.5:c.973C>G	ENSP00000384723.1:p.Pro325Ala
ENST00000436747.5:c.*2611C>G	ENSP00000400212.1:n.*2611C>G
ENST00000445308.1:c.771C>G
ENST00000468064.5:n.1265C>G
ENST00000470343.5:n.856C>G
ENST00000473126.1:n.574C>G
ENST00000486953.5:n.1199C>G
ENST00000610344.1:c.*219C>G	ENSP00000481906.1:n.*219C>G
NM_001287249.1:c.973C>G	NP_001274178.1:p.Pro325Ala
NM_152783.4:c.1375C>G	NP_689996.4:p.Pro459Ala
NR_109778.1:n.1297C>G
XM_011511734.1:c.1495C>G	XP_011510036.1:p.Pro499Ala
XM_011511735.1:c.1453C>G	XP_011510037.1:p.Pro485Ala
XM_011511736.1:c.1417C>G	XP_011510038.1:p.Pro473Ala
XM_011511744.1:c.*107C>G	XP_011510046.1:n.*107C>G
XM_011511750.1:c.*42C>G	XP_011510052.1:n.*42C>G
XM_011511754.1:c.934C>G	XP_011510056.1:p.Pro312Ala
XM_011511755.1:c.925C>G	XP_011510057.1:p.Pro309Ala
XM_011511756.1:c.922C>G	XP_011510058.1:p.Pro308Ala
XR_923004.1:n.2007C>G
XR_923007.1:n.1717C>G
XR_923011.1:n.1818C>G
NM_001352824.1:c.814C>G	NP_001339753.1:p.Pro272Ala
XM_011511734.2:c.1495C>G	XP_011510036.1:p.Pro499Ala
XM_011511735.2:c.1453C>G	XP_011510037.1:p.Pro485Ala
XM_011511736.2:c.1417C>G	XP_011510038.1:p.Pro473Ala
XM_011511744.2:c.*107C>G	XP_011510046.1:n.*107C>G
XM_011511750.3:c.*42C>G	XP_011510052.1:n.*42C>G
XM_011511756.2:c.922C>G	XP_011510058.1:p.Pro308Ala
XM_024453102.1:c.1267C>G	XP_024308870.1:p.Pro423Ala
XR_001738918.2:n.1749C>G
XR_001738919.2:n.1683C>G
XR_923004.3:n.2006C>G
XR_923007.3:n.1716C>G
XR_923011.3:n.1817C>G
NM_152783.5:c.1375C>G MANE Select	NP_689996.4:p.Pro459Ala
NM_001287249.2:c.973C>G	NP_001274178.1:p.Pro325Ala
NM_001352824.2:c.814C>G	NP_001339753.1:p.Pro272Ala
NR_109778.2:n.1246C>G